F29S (p.Phe29Ser) variant of DBH (Dopamine beta-hydroxylase)
F29S (p.Phe29Ser) in DBH (Dopamine beta-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F29S (p.Phe29Ser) variant details
- p.Phe29Ser
- Ensembl rs1564206873
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.26
- MetaLR 0.21
- MetaSVM -0.69
- CADD 27.20
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available